{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["17(1)"],"submitter":["Hussain SI"],"funding":["Universitätsklinikum Schleswig-Holstein - Campus Kiel"],"pubmed_abstract":["<h4>Background</h4>Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutations and structural changes in chromosomes. Pathogenic variants in the HCFC1 gene cause X-linked mental retardation syndrome, also known as Siderius type X-linked mental retardation. The MN1 gene is necessary for palate development, and mutations in this gene result in a genetic condition called CEBALID syndrome.<h4>Methods</h4>Exome sequencing was used to identify the disease-causing variants in two affected families, A and B, from various regions of Pakistan. Affected individuals in these two fa"],"journal":["BMC medical genomics"],"pagination":["176"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11221130"],"repository":["biostudies-literature"],"pubmed_title":["Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families."],"pmcid":["PMC11221130"],"pubmed_authors":["Muhammad N","Khan SA","Shah SA","Saleha S","Rehman AU","Khan YM","Wasif N","Hussain SI","Khan S"],"additional_accession":[]},"is_claimable":false,"name":"Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.","description":"<h4>Background</h4>Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutations and structural changes in chromosomes. Pathogenic variants in the HCFC1 gene cause X-linked mental retardation syndrome, also known as Siderius type X-linked mental retardation. The MN1 gene is necessary for palate development, and mutations in this gene result in a genetic condition called CEBALID syndrome.<h4>Methods</h4>Exome sequencing was used to identify the disease-causing variants in two affected families, A and B, from various regions of Pakistan. Affected individuals in these two fa","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2025-04-04T19:23:12.126Z","creation":"2025-04-04T19:23:12.126Z"},"accession":"S-EPMC11221130","cross_references":{"pubmed":["38956580"],"doi":["10.1186/s12920-024-01943-2"]}}